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Disease Ontology Browser
aromatic L-amino acid decarboxylase deficiency (DOID:0090123)
Alliance: disease page
Synonyms: AADC deficiency
Alt IDs: OMIM:608643, ICD10CM:E70.81, MESH:C537437, NCI:C142085, ORDO:35708, UMLS_CUI:C1291564
Definition: An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory